{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T07:28:12Z","timestamp":1790148492835,"version":"4.0.1"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,5,18]],"date-time":"2017-05-18T00:00:00Z","timestamp":1495065600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:p>Dilated cardiomyopathy (<jats:styled-content style=\"fixed-case\">DCM<\/jats:styled-content>) is one of the leading causes of heart failure with high morbidity and mortality. More than 40 genes have been reported to cause <jats:styled-content style=\"fixed-case\">DCM<\/jats:styled-content>. To provide new insights into the pathophysiology of dilated cardiomyopathy, a next\u2010generation sequencing (<jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>) workflow based on a panel of 48 cardiomyopathies\u2010causing genes was used to analyze a cohort of 222 <jats:styled-content style=\"fixed-case\">DCM<\/jats:styled-content> patients. Truncating variants were detected on 63 unrelated <jats:styled-content style=\"fixed-case\">DCM<\/jats:styled-content> cases (28.4%). Most of them were identified, as expected, on <jats:italic>\n<jats:styled-content style=\"fixed-case\">TTN<\/jats:styled-content>\n<\/jats:italic> (29 <jats:styled-content style=\"fixed-case\">DCM<\/jats:styled-content> probands), but truncating variants were also identified on myofibrillar myopathies causing genes in 17 <jats:styled-content style=\"fixed-case\">DCM<\/jats:styled-content> patients (7.7% of the <jats:styled-content style=\"fixed-case\">DCM<\/jats:styled-content> cohort): 10 variations on <jats:italic>\n<jats:styled-content style=\"fixed-case\">FLNC<\/jats:styled-content>\n<\/jats:italic> and 7 variations on <jats:italic>\n<jats:styled-content style=\"fixed-case\">BAG3<\/jats:styled-content>\n<\/jats:italic>. This study confirms that truncating variants on myofibrillar myopathies causing genes are frequently associated with dilated cardiomyopathies and also suggest that <jats:italic>\n<jats:styled-content style=\"fixed-case\">FLNC<\/jats:styled-content>\n<\/jats:italic> mutations could be considered as a common cause of dilated cardiomyopathy. Molecular approaches that would allow to detect systematically truncating variants in <jats:italic>\n<jats:styled-content style=\"fixed-case\">FLNC<\/jats:styled-content>\n<\/jats:italic> and <jats:italic>\n<jats:styled-content style=\"fixed-case\">BAG3<\/jats:styled-content>\n<\/jats:italic> into genetic testing should significantly increase test sensitivity, thereby allowing earlier diagnosis and therapeutic intervention for many patients with dilated cardiomyopathy.<\/jats:p>","DOI":"10.1111\/cge.13043","type":"journal-article","created":{"date-parts":[[2017,4,24]],"date-time":"2017-04-24T12:48:15Z","timestamp":1493038095000},"page":"616-623","source":"Crossref","is-referenced-by-count":45,"title":["Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy"],"prefix":"10.1111","volume":"92","author":[{"given":"A.","family":"Janin","sequence":"first","affiliation":[{"name":"Laboratoire de Cardiog\u00e9n\u00e9tique Mol\u00e9culaire Centre de Biologie et Pathologie Est, Hospices Civils de Lyon  Lyon France"},{"name":"NeuroMyoGen Institute, CNRS UMR 5310 \u2010 INSERM U1217, Universit\u00e9 de Lyon 1  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"N'Guyen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Timone Hospital, Marseille Teaching Hospital  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Habib","sequence":"additional","affiliation":[{"name":"Cardiology Department Timone Hospital  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Dauphin","sequence":"additional","affiliation":[{"name":"Image Science for Interventional Techniques (ISIT), UMR6284, and CHU Clermont\u2010Ferrand, Cardiology Department Clermont Universit\u00e9, Universit\u00e9 d'Auvergne, Cardio Vascular Interventional Therapy and Imaging (CaVITI)  Clermont\u2010Ferrand France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Chanavat","sequence":"additional","affiliation":[{"name":"Laboratoire de Cardiog\u00e9n\u00e9tique Mol\u00e9culaire Centre de Biologie et Pathologie Est, Hospices Civils de Lyon  Lyon France"},{"name":"NeuroMyoGen Institute, CNRS UMR 5310 \u2010 INSERM U1217, Universit\u00e9 de Lyon 1  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Bouvagnet","sequence":"additional","affiliation":[{"name":"NeuroMyoGen Institute, CNRS UMR 5310 \u2010 INSERM U1217, Universit\u00e9 de Lyon 1  Lyon France"},{"name":"Groupe Hospitalier Est, Hospices Civils de Lyon Service de Cardiologie C  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Eschalier","sequence":"additional","affiliation":[{"name":"Image Science for Interventional Techniques (ISIT), UMR6284, and CHU Clermont\u2010Ferrand, Cardiology Department Clermont Universit\u00e9, Universit\u00e9 d'Auvergne, Cardio Vascular Interventional Therapy and Imaging (CaVITI)  Clermont\u2010Ferrand France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Streichenberger","sequence":"additional","affiliation":[{"name":"NeuroMyoGen Institute, CNRS UMR 5310 \u2010 INSERM U1217, Universit\u00e9 de Lyon 1  Lyon France"},{"name":"Laboratoire d'Anatomo\u2010Cyto\u2010Pathologie, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Chevalier","sequence":"additional","affiliation":[{"name":"H\u00f4pital Cardiologique Louis\u2010Pradel Service de Rythmologie  Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6127-0694","authenticated-orcid":false,"given":"G.","family":"Millat","sequence":"additional","affiliation":[{"name":"Laboratoire de Cardiog\u00e9n\u00e9tique Mol\u00e9culaire Centre de Biologie et Pathologie Est, Hospices Civils de Lyon  Lyon France"},{"name":"NeuroMyoGen Institute, CNRS UMR 5310 \u2010 INSERM U1217, Universit\u00e9 de Lyon 1  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,5,18]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrcardio.2013.105"},{"key":"e_1_2_6_3_1","first-page":"e29","article-title":"Heart disease and stroke statistics 2015 update: a report from the American Heart Association","volume":"131","author":"Mozaffarian D","year":"2015","journal-title":"Circulation"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehu301"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cjca.2015.06.034"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2015.12.011"},{"key":"e_1_2_6_7_1","first-page":"93e102","article-title":"Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on familial dilated cardiomyopathy","volume":"20","author":"Mestroni L","year":"1999","journal-title":"Eur Heart J"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12741"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3719"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurol.2015.06.002"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.04.021"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms6326"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22942"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2016.09.927"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacbts.2016.05.004"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.00243-06"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2011.10.008"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.179887"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cjca.2014.09.030"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/1479-5876-12-192"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.24615"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehr105"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.01.016"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21603"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yjmcc.2016.01.015"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13043","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13043","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T17:14:01Z","timestamp":1695489241000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13043"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,5,18]]},"references-count":25,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["10.1111\/cge.13043"],"URL":"https:\/\/doi.org\/10.1111\/cge.13043","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,5,18]]}}}